Synonyms

• None

Disorder Subdivisions

• None

General Discussion

Stuve-Wiedemann syndrome is rare skeletal disorder present at birth (congenital). It is characterized by short stature, bowing of the long bones of the arms and legs (campomelia), and fingers or toes that are permanently flexed (camptodactyly) outward away from the thumb (ulnar deviation). Affected infants may develop life-threatening complications such as episodes where there is a sudden rise in body temperature (hyperthermia) or respiratory distress. Stuve-Wiedemann syndrome is inherited as an autosomal recessive trait.

Some researchers believe that Stuve-Wiedemann syndrome and Schwartz-Jampel syndrome (SJS) type II are the same disorder. SJS was previously believed to be the newborn (neonatal) form of SJS. However, the clinical and radiographic pictures of Stuve-Wiedemann and SJS type II are nearly identical leading many researchers to believe the two disorders are a single entity. Radiographic pictures are records of internal structures of the body made from the use of x-rays or gamma rays.

In the past, Stuve-Wiedemann syndrome was thought to be a lethal condition in all cases. Today, there are reports in the literature describing patients who survive.

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders, Inc. ® (NORD). A copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html

The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians.

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Last Updated:  5/25/2008
Copyright  2004National Organization for Rare Disorders, Inc.